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112 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First Reported
OMIA 000022-9823AgnathiaSus scrofapig
OMIA 001702-9823Alopecia areataSus scrofapig
OMIA 000038-9823Amyloidosis, AASus scrofapig
OMIA 000991-9823Androgen insensitivity syndrome (AIS)Sus scrofapig
OMIA 000064-9823ArthritisSus scrofapig
OMIA 002044-9823Ataxia telangiectasiaSus scrofapig
OMIA 000080-9823AtherosclerosisSus scrofapig
OMIA 001089-9823Blood group system ABOSus scrofapig GGTA1 2001
OMIA 001183-9823Bullous pemphigoid antigenSus scrofapig
OMIA 001990-9823Cancer model, KRAS and TP53Sus scrofapig
OMIA 000162-9823Cardiomyopathy, dilatedSus scrofapig
OMIA 000515-9823Cardiomyopathy, hypertrophicSus scrofapig
OMIA 000179-9823Cerebellar hypoplasiaSus scrofapig
OMIA 000187-9823ChondrodysplasiaSus scrofapig
OMIA 000189-9823ChondrodystrophySus scrofapig
OMIA 000197-9823Cleft palateSus scrofapig
OMIA 000201-9823Coat colour, agoutiSus scrofapig
OMIA 000202-9823Coat colour, albinismSus scrofapig
OMIA 001249-9823Coat colour, brownSus scrofapig TYRP1 2011
OMIA 000209-9823Coat colour, dominant whiteSus scrofapig KIT 1996
OMIA 001199-9823Coat colour, extensionSus scrofapig MC1R 1998
OMIA 001743-9823Coat colour, patchSus scrofapig KIT 1998
OMIA 001216-9823Coat colour, roanSus scrofapig KIT 2011
OMIA 001469-9823Coat colour, white beltSus scrofapig
OMIA 001745-9823Coat colour, white belt, KIT-relatedSus scrofapig KIT 2012
OMIA 001929-9823Cone-rod dystrophy 6Sus scrofapig
OMIA 000243-9823CryptorchidismSus scrofapig
OMIA 000249-9823CyclopiaSus scrofapig
OMIA 001794-9823Cystic fibrosisSus scrofapig
OMIA 000278-9823Diabetes insipidusSus scrofapig
OMIA 000284-9823Diabetes mellitus, type IISus scrofapig
OMIA 001323-9823Dwarfism, LaronSus scrofapig
OMIA 001718-9823Dwarfism, Schmid metaphyseal chondrodysplasiaSus scrofapig COL10A1 2000
OMIA 002157-9823Ectodermal dysplasia-9Sus scrofapig HOXC13 2017
OMIA 000348-9823Epitheliogenesis imperfectaSus scrofapig
OMIA 000354-9823Exostosis, multipleSus scrofapig
OMIA 001916-9823Familial adenomatous polyposisSus scrofapig
OMIA 001090-9823Fatty metamorphosis of visceraSus scrofapig
OMIA 000392-9823Fragile siteSus scrofapig
OMIA 000405-9823Gaucher disease, type ISus scrofapig
OMIA 000424-9823Goitre, familialSus scrofapig
OMIA 001813-9823HaemangiosarcomaSus scrofapig
OMIA 000437-9823Haemophilia ASus scrofapig
OMIA 000459-9823Hernia, diaphragmaticSus scrofapig
OMIA 000462-9823Hernia, inguinalSus scrofapig
OMIA 000468-9823Heterochromia irides/iridisSus scrofapig
OMIA 000473-9823Hip dysplasiaSus scrofapig
OMIA 000478-9823HoloprosencephalySus scrofapig
OMIA 000485-9823Huntington diseaseSus scrofapig
OMIA 000487-9823HydrocephalusSus scrofapig
OMIA 000493-9823Hydrops foetalisSus scrofapig
OMIA 000499-9823HypercholesterolaemiaSus scrofapig LDLR 1998
OMIA 001160-9823HyperlipidaemiaSus scrofapig
OMIA 000507-9823HyperostosisSus scrofapig
OMIA 000540-9823HypotrichosisSus scrofapig
OMIA 001278-9823Hypotrichosis, dominantSus scrofapig
OMIA 001458-9823Hypotrichosis, juvenile with age-dependent emphysemaSus scrofapig
OMIA 001279-9823Hypotrichosis, recessiveSus scrofapig
OMIA 000573-9823Kartagener syndromeSus scrofapig
OMIA 002161-9823Leg weakness, MSTN-relatedSus scrofapig MSTN 2019
OMIA 002147-9823Leigh syndromeSus scrofapig
OMIA 000621-9823Malignant hyperthermiaSus scrofapig RYR1 1991
OMIA 000629-9823MegacolonSus scrofapig
OMIA 000633-9823Melanoma, Sinclair swine cutaneous malignantSus scrofapig
OMIA 000636-9823Membranoproliferative glomerulonephritis type IISus scrofapig CFH 2002
OMIA 001952-9823MicrotiaSus scrofapig HOXA1 2015
OMIA 001888-9823Muscular dystrophy, Becker typeSus scrofapig
OMIA 001081-9823Muscular dystrophy, Duchenne typeSus scrofapig
OMIA 000181-9823Neuronal Ceroid Lipofuscinosis, genericSus scrofapig
OMIA 001150-9823Neuropathy, peripheralSus scrofapig
OMIA 000729-9823Nipples, invertedSus scrofapig
OMIA 001258-9823ObesitySus scrofapig
OMIA 000747-9823OsteoarthritisSus scrofapig
OMIA 001214-9823OsteochondromatosisSus scrofapig
OMIA 000750-9823OsteochondrosisSus scrofapig
OMIA 001266-9823Otitis media, susceptibility toSus scrofapig
OMIA 000810-9823PolydactylySus scrofapig
OMIA 001158-9823Polysaccharide storage myopathy/Exertional rhabdomyolysisSus scrofapig
OMIA 001176-9823Porphyria cutanea tardaSus scrofapig
OMIA 001175-9823Porphyria, congenital erythropoieticSus scrofapig
OMIA 000815-9823Porphyria, unclassifiedSus scrofapig
OMIA 000817-9823Portosystemic shuntSus scrofapig
OMIA 000834-9823Protamine-2 deficiencySus scrofapig
OMIA 000101-9823Respiratory distress syndromeSus scrofapig
OMIA 001574-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positiveSus scrofapig
OMIA 001986-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiationSus scrofapig DCLRE1C 2015
OMIA 000899-9823Severe combined immunodeficiency disease, X-linkedSus scrofapig
OMIA 000928-9823Spastic paresisSus scrofapig
OMIA 001334-9823Sperm, short tailSus scrofapig SPEF2 2006
OMIA 001673-9823Spermatogenic arrestSus scrofapig TEX14 2011
OMIA 000944-9823Spongiform encephalopathySus scrofapig
OMIA 000952-9823Subaortic stenosisSus scrofapig
OMIA 000963-9823Syndactyly (mule foot)Sus scrofapig
OMIA 000969-9823TachycardiaSus scrofapig
OMIA 000985-9823Teat/nipple numberSus scrofapig
OMIA 001104-9823Thrombocytopenic purpura, autoimmuneSus scrofapig
OMIA 001003-9823ThrombopathiaSus scrofapig
OMIA 001016-9823TremorSus scrofapig
OMIA 001200-9823Tremor, high-frequencySus scrofapig MYH7 2012
OMIA 000770-9823Tremor, X-linkedSus scrofapig
OMIA 001856-9823Tuberculosis, susceptibility/resistance toSus scrofapig
OMIA 002078-9823Tyrosinemia, type ISus scrofapig
OMIA 001033-9823UrolithiasisSus scrofapig
OMIA 001041-9823Ventricular septal defectSus scrofapig
OMIA 001046-9823Vertebral anomaliesSus scrofapig
OMIA 000837-9823Vitamin D-deficiency rickets, type ISus scrofapig CYP27B1 2003
OMIA 001058-9823Von Willebrand disease IIISus scrofapig VWF 2018
OMIA 001056-9823Von Willebrand disease, genericSus scrofapig
OMIA 001401-9823Waardenburg syndrome, type 2ASus scrofapig MITF 2016
OMIA 001142-9823Wilms tumourSus scrofapig
OMIA 001071-9823Wilson diseaseSus scrofapig
OMIA 000901-9823XX testicular DSD (Disorder of Sexual Development)Sus scrofapig